rs104894547

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(T;T)	0	common in clinvar

Make rs104894547(C;C)

Make rs104894547(C;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

81510709

Gene

ACTG1

is a	snp
is	mentioned by
dbSNP	rs104894547
dbSNP (classic)	rs104894547
ClinGen	rs104894547
ebi	rs104894547
HLI	rs104894547
Exac	rs104894547
Gnomad	rs104894547
Varsome	rs104894547
LitVar	rs104894547
Map	rs104894547
PheGenI	rs104894547
Biobank	rs104894547
1000 genomes	rs104894547
hgdp	rs104894547
ensembl	rs104894547
geneview	rs104894547
scholar	rs104894547
google	rs104894547
pharmgkb	rs104894547
gwascentral	rs104894547
openSNP	rs104894547
23andMe	rs104894547
SNPshot	rs104894547
SNPdbe	rs104894547
MSV3d	rs104894547
GWAS Ctlg	rs104894547

Max Magnitude

0

OMIM	102560
Desc
Variant	0006
Related	also

ClinVar
Risk	rs104894547(C;C)
Alt	rs104894547(C;C)
Reference	Rs104894547(T;T)
Significance	Pathogenic
Disease	Deafness
Variation	info
Gene	ACTG1
CLNDBN	Deafness, autosomal dominant 20
Reversed	1
HGVS	NC_000017.10:g.79477735A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019985.28,